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Year Number of Results
2002 6
2003 3
2004 2
2005 1
2006 2
2007 1
2008 2
2009 3
2010 4
2011 5
2012 3
2013 4
2014 6
2015 7
2016 3
2017 4
2018 4
2019 4
2020 2
2021 7
2022 4
2023 10
2024 10
2025 12
2026 10

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110 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: muntau ac. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: muntau ac. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer SD, Haas F, Wong MN, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB. Braun F, et al. Among authors: muntau ac. J Clin Invest. 2023 Jun 1;133(11):e157782. doi: 10.1172/JCI157782. J Clin Invest. 2023. PMID: 37014703 Free PMC article.
Meta-analysis of bone mineral density in adults with phenylketonuria.
Rocha JC, Hermida Á, Jones CJ, Wu Y, Clague GE, Rose S, Whitehall KB, Ahring KK, Pessoa ALS, Harding CO, Rohr F, Inwood A, Longo N, Muntau AC, Sivri S, Maillot F. Rocha JC, et al. Among authors: muntau ac. Orphanet J Rare Dis. 2024 Sep 12;19(1):338. doi: 10.1186/s13023-024-03223-9. Orphanet J Rare Dis. 2024. PMID: 39267130 Free PMC article.
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Guéant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang L. Li Y, et al. Among authors: muntau ac. Science. 2021 Aug 6;373(6555):662-673. doi: 10.1126/science.aba4991. Science. 2021. PMID: 34353949 Free PMC article.
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.
Giżewska M, Inwood A, Tyčová R, Vijay S, Fjellbirkeland O, van Spronsen F, Venegas-Moreno EM, Guilder L, Burlina A, Peters H, Potter M, Grošelj U, Chakrapani A, Bélanger-Quintana A, Maillot F, Rutsch F, Arnoux JB, Tchan M, Ingalls K, Zhao Z, Hughes C, Smith N, Muntau AC. Giżewska M, et al. Among authors: muntau ac. Metabolism. 2026 May;178:156513. doi: 10.1016/j.metabol.2026.156513. Epub 2026 Jan 28. Metabolism. 2026. PMID: 41616812 Free article. Clinical Trial.
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.
van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Giżewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yıldız Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC. van Spronsen F, et al. Among authors: muntau ac. Genet Med. 2026 Apr;28(4):101683. doi: 10.1016/j.gim.2026.101683. Epub 2026 Jan 12. Genet Med. 2026. PMID: 41537382 Free article. Clinical Trial.
110 results